Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52245578G>T , CM000665.2:g.52245578G>T | GRCh38 |
| NC_000003.11:g.52279594G>T , CM000665.1:g.52279594G>T | GRCh37 |
| NC_000003.10:g.52254634G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000679296.1:c.-270+1101C>A | ENSP00000504576.1:n.-270+1101C>A |